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Standards and Tools Webinar Series

Managing the Mass of Measures: Real People’s Real Data Made Useful

The structure and language of health information often reflects the reason it was captured – whether medical records, patient built questionnaires, research registries, wearable devices, clinical trials. When, as a society and a globe, we try to use this information to advance a health agenda, we discover many barriers. These include a lack of: interoperability, standardization, liquidity, quality, clarity of intended purpose, and many other challenges. Creative organizations and individuals are creating solutions to accelerate the use of our health information in a digital world.

This webinar series will examine the plethora of tools and resources available to make use of health-related data. Throughout the series we will examine standards, common data elements, validated instruments, algorithms, queries and methods for small and large data. Opportunities and challenges will be identified throughout the series.

Goals of the series:

Enable participant-powered research networks to engage in translational research

Educate researchers about new and renewed tools

Network researchers, clinicians, and participants through these diverse introductions to quality tools

Provide feedback to the tool-makers so that we alleviate unmet medical needs

As is our usual practice, Genetic Alliance will archive these webinars as part of our service to the boarder community, and specifically to educate condition-specific advocacy organizations. These webinars become part of our Navigating the Ecosystem of Translational Science Toolbox. If you know about a resource or tool that you would like to learn more about, or you see an important resource missing from our lineup, please email info (at) geneticalliance (dot) org.

PhenomeCentral

Undiagnosed rare disorders may be present in only a handful of individuals seen at different hospitals and sequenced by different centers. PhenomeCentral is a portal for secure data sharing targeted to clinicians and scientists working in the rare disorder community. PhenomeCentral encourages global scientific collaboration while respecting the privacy of patients profiled in this centralized database. In PhenomeCentral, once a user enters their patients' data, they are connected to other clinicians/scientists whose patient profiles within PhenomeCentral share similar phenotypes and genotypes. The matching algorithms are sensitive to atypical phenotypic manifestations of disorders. The semantic model, which is the basis of our matching process, helps reveal subtle similarities between disorder manifestations and may provide justification for reconsidering diagnoses that were initially discarded due to atypical phenotypes. The PhenomeCentral collaboration model enables effective and secure data-sharing techniques that willimprove the understanding of disorder manifestations and confirm the underlying cause.

PhenX

PhenX (consensus measures for Phenotypes and eXposures), led by RTI International and funded by the National Human Genome Research Institute (NHGRI) helps to integrate genetics and epidemiologic research. The PhenX Toolkit (www.phenxtoolkit.org) is a publicly available, online catalog of measures of phenotypes and exposures for use in biomedical research. The Toolkit has a broad scope, providing assessment protocols for 339 measures across 21 research domains, including, Demographics, Anthropometrics, Environmental Exposures, Cardiovascular, Diabetes, Neurology, Physical Activity and Physical Fitness, and Social Environments and provides additional depth in Substance Abuse and Addiction (SAA). The content, functionality and maintenance of the PhenX Toolkit are driven by the scientific community. A steering committee (SC) provides overall guidance and establishes criteria for PhenX measures. Working groups (WG) of experts select measures for inclusion in the Toolkit. All SC and WG decisions are by consensus and consider input from the Institutes and Centers of the National Institutes of Health (NIH) and the broader scientific community. Toolkit measures are well-established, high-quality, low-burden measures and are intended for use in genome-wide association studies (GWAS) and other types of studies. PhenX RISING (Real world, Implementation, SharING), brought together seven investigators who were awarded funds from NHGRI and OBSSR to incorporate PhenX measures into existing, population-based genomic studies. Over the course of the year-long project, these early adopters evaluated the PhenX measures and made recommendations for improving the Toolkit. Widespread adoption of PhenX measures will greatly facilitate cross-study comparisons and analyses.

REDCap

REDCap (Research Electronic Data Capture) is a secure web application designed to support planning and management of data for research studies. The REDCap platform allows users to easily build and manage online surveys and databases quickly and securely. REDCap currently supports more than 107,000 projects and 139,000 end-users across a rapidly growing consortium partner list of 999 institutions in 79 countries. The development cycle for REDCap is rapid and we typically release technical backward-compatible feature enhancements and/or new functional modules each month. This presentation will first provide: 1) a history of the REDCap program; 2) a functional overview of the platform; 3) an description of the REDCap consortium; and 4) a preliminary overview discussion of next-up development work (e.g. enhanced patient reported outcome data collection features).

i2b2

i2b2 (Informatics for Integrating Biology and the Bedside) is an NIH-funded National Center for Biomedical Computing based at Partners HealthCare System. The i2b2 Center is developing a scalable informatics framework that will enable clinical researchers to use existing clinical data for discovery research and, when combined with IRB-approved genomic data, facilitate the design of targeted therapies for individual patients with diseases having genetic origins. This platform currently enjoys wide international adoption by the CTSA network, academic health centers, and industry.

The PCORI Methodology Report: Setting the Standard(s) for Rigorous, Patient-Centered Research

The Patient-Centered Outcomes Research Institute’s (PCORI) mission is to help people make better-informed healthcare decisions and improve healthcare delivery and outcomes by producing and promoting high-integrity, evidence-based information that comes from research guided by patients, caregivers, and the broader health care community. In its Methodology Report, the PCORI Methodology Committee provides critical guidance to PCORI in advancing this mission, and to the research field more broadly, by articulating: (1) a set of minimum standards for designing and conducting high-quality PCOR studies, and (2) a research translation framework that helps make PCORI’s research agenda transparent and accessible to stakeholders. Widely praised for its clarity and accessibility, the Report will ultimately help with the critical goals of ensuring evidence is understood and used to improve delivery of care. This webinar will provide an overview of the PCORI Methodology Report, including a discussion of how to engage stakeholders who might use the standards, and collaborating with existing entities and initiatives to strengthen research practices.

PROMIS

Patient Reported Outcomes Measurement Information System (PROMIS) is a system of highly reliable, precise measures of patient–reported health status for physical, mental, and social well–being. PROMIS tools measure what patients are able to do and how they feel by asking questions. PROMIS’ measures can be used as primary or secondary endpoints in clinical studies of the effectiveness of treatment.

The Patient–Reported Outcome Measurement Information System (PROMIS®), funded by the National Institutes of Health, aims to provide clinicians and researchers access to efficient, precise, valid, and responsive adult– and child–reported measures of health and well–being.

Presenters:
San Keller, PhD, American Institutes for Research
Nan Rothrock, PhD, Northwestern University

Common Data Elements

NIH encourages the use of common data elements (CDEs) in clinical research, patient registries, and other human subject research to improve the comparability of data from multiple studies, enhance data quality, and accelerate study start-up. A number of the NIH institutes, including NINDS, have designated CDEs for use in their funded research, and trans-NIH efforts are under way to improve the coordination and communication of NIH CDE efforts.

Presenters:
Jerry Sheehan, NLM (National Library of Medicine)

SMART: Building the App Store for Health: Co-opting the Point of Care for a Learning Healthcare System

Dr. Mandl, Professor at Harvard Medical School and Boston Children’s Hospital Chair in Biomedical Informatics and Population Health, will discuss smartplatforms.org—an HHS-funded initiative to enable an “app store for health.” The SMART (Substitutable Medical Apps & Reusable Technology) Application Programming Interface (API) enhances the function of electronic health records by interfacing health system data to innovation. The goal of SMART is to enable innovators to write an app once and run it anywhere. SMART makes EHRs behave like iPhones. The API enables end users of electronic health record systems to benefit from “substitutability,” in that an app can be easily added, or deleted and replaced. Mandl will discuss the newly launched SMART Advisory Committee which brings together leaders across the healthcare ecosystem to test and diffuse the SMART model. He will also illustrate how SMART is used in patient centered outcomes research as a part of PCORNet.

tranSMART

The tranSMART Foundation is a global non-profit organization devoted to realizing the promise of translational biomedical research through development of the tranSMART knowledge management platform. The tranSMART Foundation enables effective sharing, integration, standardization and analysis of heterogeneous data from collaborative translational research by mobilizing the tranSMART open-source and open-data community. Keith Elliston, CEO of tranSMART Foundation, will discuss the current and future state of the tranSMART Foundation. Paul Avillach, MD, PhD, at CBMI - Harvard Medical School, will then speak about creating clinical and genomic patient centric information commonalities using tranSMART with two examples. These examples include the Boston Children Hospital Research Connection Autism pilot and PCORI PPRN Phelan-McDermid Syndrome Data Network.

CDISC

CDISC is a global, open, multidisciplinary, non-profit organization that has established standards to support the acquisition, exchange, submission and archive of clinical research data and metadata. The CDISC mission is to develop and support global, platform-independent data standards that enable information system interoperability to improve medical research and related areas of healthcare. CDISC standards are vendor-neutral, platform-independent and freely available via the CDISC website. The CDISC Vision is to Inform Patient Care & Safety Through Higher Quality Medical Research. During the webinar presenters will provide an overview of CDISC Clinical Research Standards and CFAST (therapeutic area standards).

Mini-Sentinel

Mini-Sentinel is a pilot project sponsored by the U.S. Food and Drug Administration (FDA) to create an active surveillance system - the Sentinel System - to monitor the safety of FDA-regulated medical products. Mini-Sentinel uses pre-existing electronic healthcare data from multiple sources. Collaborating Institutions provide access to data as well as scientific and organizational expertise. Mini-Sentinel is part of the FDA’s Sentinel Initiative, which is exploring a variety of approaches for improving the Agency’s ability to quickly identify and assess safety issues.